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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SVOP

Variant:p.M69K

SVOP

12q24.11 (UCSC)OMIM GTEx

13 papers

Pfam Domains

Sugar_traa 74–347UCSCSugar (and other) transporter

MFS_1aa 377–538UCSCMajor Facilitator Superfamily

Gene Aliases

HGNC Name

SV2 related protein

HGNC Alias Symbols

DKFZp761H039; SLC22B4

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr12:108978654 A>T

NM_018711.5

p.M69K

c.206T>A

exact variant not in gnomAD20 overlapping SVs

Surrounding Variants

chr12:108983758 A>T

NM_018711.5

p.V13V

c.39T>A

exact variant not in gnomAD20 overlapping SVs

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."